Canonical Allele Identifier: PA658681026
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468007
ClinVar RCV Id: RCV000548172 RCV001551674 RCV001020102
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Arg1122His
CA046129
NM_000548.5:c.3365G>A